Linked Data
dbSNP Id:
rs1173700959
gnomAD v2:
18-57105206-CCA-C
gnomAD v3:
18-59437974-CCA-C
gnomAD v4:
18-59437974-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59437977_59437978del , CM000680.2:g.59437977_59437978del | GRCh38 |
| NC_000018.9:g.57105209_57105210del , CM000680.1:g.57105209_57105210del | GRCh37 |
| NC_000018.8:g.55256189_55256190del | NCBI36 |
| NG_016990.1:g.264437_264438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589419.2:n.990+135_990+136del | ||
| ENST00000650467.2:c.765+135_765+136del | ENSP00000496897.2:n.765+135_765+136del | |
| ENST00000695903.1:c.*66+65_*66+66del | ENSP00000512255.1:n.*66+65_*66+66del | |
| ENST00000695904.1:c.1100+135_1100+136del | ENSP00000512259.1:n.1100+135_1100+136del | |
| ENST00000439986.9:c.987+135_987+136del MANE Select | ENSP00000404464.2:n.987+135_987+136del | |
| ENST00000589116.2:n.695+135_695+136del | ||
| ENST00000649564.1:c.987+135_987+136del | ENSP00000497183.1:n.987+135_987+136del | |
| ENST00000650467.1:c.643+135_643+136del | ||
| ENST00000398179.3:c.777+135_777+136del | ENSP00000381241.3:n.777+135_777+136del | |
| ENST00000439986.8:c.987+135_987+136del | ENSP00000404464.2:n.987+135_987+136del | |
| ENST00000589116.1:n.695+135_695+136del | ||
| NM_133459.3:c.987+135_987+136del | NP_597716.1:n.987+135_987+136del | |
| XM_005266648.2:c.987+135_987+136del | XP_005266705.1:n.987+135_987+136del | |
| NM_133459.4:c.987+135_987+136del MANE Select | NP_597716.1:n.987+135_987+136del | |
| XM_017025556.1:c.1100+135_1100+136del | XP_016881045.1:n.1100+135_1100+136del | |
| XM_017025557.1:c.1100+135_1100+136del | XP_016881046.1:n.1100+135_1100+136del | |
| XM_017025558.1:c.1057+65_1057+66del | XP_016881047.1:n.1057+65_1057+66del | |
| XM_024451091.1:c.987+135_987+136del | XP_024306859.1:n.987+135_987+136del | |
| XR_001753142.1:n.2009+65_2009+66del |